296 related articles for article (PubMed ID: 16033706)
1. A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs.
Melville SA; Wilson CL; Chiang CS; Studdert VP; Lingaas F; Wilton AN
Genomics; 2005 Sep; 86(3):287-94. PubMed ID: 16033706
[TBL] [Abstract][Full Text] [Related]
2. A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs.
Villani NA; Bullock G; Michaels JR; Yamato O; O'Brien DP; Mhlanga-Mutangadura T; Johnson GS; Katz ML
Mol Genet Metab; 2019 May; 127(1):107-115. PubMed ID: 31101435
[TBL] [Abstract][Full Text] [Related]
3. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
Savukoski M; Klockars T; Holmberg V; Santavuori P; Lander ES; Peltonen L
Nat Genet; 1998 Jul; 19(3):286-8. PubMed ID: 9662406
[TBL] [Abstract][Full Text] [Related]
4. A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
Pineda-Trujillo N; Cornejo W; Carrizosa J; Wheeler RB; Múnera S; Valencia A; Agudelo-Arango J; Cogollo A; Anderson G; Bedoya G; Mole SE; Ruíz-Linares A
Neurology; 2005 Feb; 64(4):740-2. PubMed ID: 15728307
[TBL] [Abstract][Full Text] [Related]
5. CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.
Xin W; Mullen TE; Kiely R; Min J; Feng X; Cao Y; O'Malley L; Shen Y; Chu-Shore C; Mole SE; Goebel HH; Sims K
Neurology; 2010 Feb; 74(7):565-71. PubMed ID: 20157158
[TBL] [Abstract][Full Text] [Related]
6. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis.
Katz ML; Khan S; Awano T; Shahid SA; Siakotos AN; Johnson GS
Biochem Biophys Res Commun; 2005 Feb; 327(2):541-7. PubMed ID: 15629147
[TBL] [Abstract][Full Text] [Related]
7. A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry.
Guo J; Johnson GS; Brown HA; Provencher ML; da Costa RC; Mhlanga-Mutangadura T; Taylor JF; Schnabel RD; O'Brien DP; Katz ML
Mol Genet Metab; 2014 Aug; 112(4):302-9. PubMed ID: 24953404
[TBL] [Abstract][Full Text] [Related]
8. A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.
Kopra O; Vesa J; von Schantz C; Manninen T; Minye H; Fabritius AL; Rapola J; van Diggelen OP; Saarela J; Jalanko A; Peltonen L
Hum Mol Genet; 2004 Dec; 13(23):2893-906. PubMed ID: 15459177
[TBL] [Abstract][Full Text] [Related]
9. Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.
Kolicheski A; Johnson GS; O'Brien DP; Mhlanga-Mutangadura T; Gilliam D; Guo J; Anderson-Sieg TD; Schnabel RD; Taylor JF; Lebowitz A; Swanson B; Hicks D; Niman ZE; Wininger FA; Carpentier MC; Katz ML
J Vet Intern Med; 2016 Jul; 30(4):1149-58. PubMed ID: 27203721
[TBL] [Abstract][Full Text] [Related]
10. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
Ranta S; Zhang Y; Ross B; Lonka L; Takkunen E; Messer A; Sharp J; Wheeler R; Kusumi K; Mole S; Liu W; Soares MB; Bonaldo MF; Hirvasniemi A; de la Chapelle A; Gilliam TC; Lehesjoki AE
Nat Genet; 1999 Oct; 23(2):233-6. PubMed ID: 10508524
[TBL] [Abstract][Full Text] [Related]
11. Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis.
Sharp J; Savukoski M; Wheeler RB; Harris J; Järvelä I; Peltonen L; Gardiner M; Williams R
Am J Med Genet; 1995 Jun; 57(2):348-9. PubMed ID: 7668361
[TBL] [Abstract][Full Text] [Related]
12. The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.
Schmiedt ML; Bessa C; Heine C; Ribeiro MG; Jalanko A; Kyttälä A
Hum Mutat; 2010 Mar; 31(3):356-65. PubMed ID: 20052765
[TBL] [Abstract][Full Text] [Related]
13. Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.
Teixeira CA; Espinola J; Huo L; Kohlschütter J; Persaud Sawin DA; Minassian B; Bessa CJ; Guimarães A; Stephan DA; Sá Miranda MC; MacDonald ME; Ribeiro MG; Boustany RM
Hum Mutat; 2003 May; 21(5):502-8. PubMed ID: 12673792
[TBL] [Abstract][Full Text] [Related]
14. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Aiello C; Terracciano A; Simonati A; Discepoli G; Cannelli N; Claps D; Crow YJ; Bianchi M; Kitzmuller C; Longo D; Tavoni A; Franzoni E; Tessa A; Veneselli E; Boldrini R; Filocamo M; Williams RE; Bertini ES; Biancheri R; Carrozzo R; Mole SE; Santorelli FM
Hum Mutat; 2009 Mar; 30(3):E530-40. PubMed ID: 19177532
[TBL] [Abstract][Full Text] [Related]
15. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
Sharp JD; Wheeler RB; Parker KA; Gardiner RM; Williams RE; Mole SE
Hum Mutat; 2003 Jul; 22(1):35-42. PubMed ID: 12815591
[TBL] [Abstract][Full Text] [Related]
16. The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain.
Holmberg V; Jalanko A; Isosomppi J; Fabritius AL; Peltonen L; Kopra O
Neurobiol Dis; 2004 Jun; 16(1):29-40. PubMed ID: 15207259
[TBL] [Abstract][Full Text] [Related]
17. Novel rapid genotyping assays for neuronal ceroid lipofuscinosis in Border Collie dogs and high frequency of the mutant allele in Japan.
Mizukami K; Chang HS; Yabuki A; Kawamichi T; Kawahara N; Hayashi D; Hossain MA; Rahman MM; Uddin MM; Yamato O
J Vet Diagn Invest; 2011 Nov; 23(6):1131-9. PubMed ID: 22362793
[TBL] [Abstract][Full Text] [Related]
18. Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant.
Cismondi IA; Cannelli N; Aiello C; Santorelli FM; Kohan R; Oller Ramírez AM; Halac IN
Hum Genet; 2008 Jun; 123(5):554. PubMed ID: 20960661
[No Abstract] [Full Text] [Related]
19. Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population.
Al-Kowari MK; Hassan S; El-Said MF; Ben-Omran T; Hedin L; Mole SE; Badii R
J Child Neurol; 2011 May; 26(5):625-9. PubMed ID: 21447811
[TBL] [Abstract][Full Text] [Related]
20. Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene.
Houweling PJ; Cavanagh JA; Palmer DN; Frugier T; Mitchell NL; Windsor PA; Raadsma HW; Tammen I
Biochim Biophys Acta; 2006 Oct; 1762(10):890-7. PubMed ID: 16935476
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]